Results 1 to 10 of about 18,190 (215)

Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of function LMNA mutation [PDF]

Nucleus
Over the past 25 years, nuclear envelope (NE) perturbations have been reported in various experimental models with mutations in the LMNA gene. Although the hypothesis that NE perturbations from LMNA mutations are a fundamental feature of striated muscle ...
Jason C. Choi
doaj   +2 more sources

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models

Pharmaceuticals
Variants (pathogenic) of the LMNA gene are a common cause of familial dilated cardiomyopathy (DCM), which is characterised by early-onset atrioventricular (AV) block, atrial fibrillation and ventricular tachyarrhythmias (VTs), and progressive heart ...
Xin-Yi Wu, Yee-Ki Lee, Yee-Man Lau, Ka-Wing Au, Yiu-Lam Tse, Kwong-Man Ng, Chun-Ka Wong, Hung-Fat Tse   +7 more
doaj   +1 more source

UBC9-mediated regulation of K144 ubiquitination of Lamin A and its implications for hepatocellular carcinoma

Journal of Translational Medicine
Background Hepatocellular carcinoma (HCC) is a lethal malignancy with limited treatment options. UBC9, the sole E2 conjugating enzyme in the SUMOylation pathway, is frequently overexpressed in HCC, yet its specific role in hepatocarcinogenesis remains ...
QingShui Wang, Ziqiang Liao, Hao Zhang, Ziyi Jin, Zhuoqin Zhong, Xinji Gao, YiMin Huang, Menghua Qiu, Wudan Ren, Yunjia Liu, Liyan Zhang, Runjing Fan, Yaqian Feng, Kunmu Zhang, Yehuda G. Assaraf, Yao Lin   +15 more
doaj   +1 more source

SIRT1 Ameliorates Lamin A/C Deficiency-Induced Cardiac Dysfunction by Promoting Mitochondrial Bioenergetics

JACC: Basic to Translational Science
Summary: Dilated cardiomyopathy (DCM) is associated with high mortality despite advanced therapies. The LMNA gene encodes lamin A/C and is the second most frequently mutated gene associated with DCM, for which therapeutic options are limited.
Zunhui Du, MS, Yanting Zhou, MS, Qiheng Li, MS, Yuan Xie, MS, Tingfang Zhu, MS, Jing Qiao, MS, Ruihong Zhang, BS, Yangyang Bao, MD, PhD, Lingjie Wang, MD, PhD, Yinyin Xie, PhD, Jinwei Quan, MS, Menglu Lin, MS, Ning Zhang, MD, PhD, Qi Jin, MD, PhD, Wenbin Liang, MD, PhD, Liqun Wu, MD, PhD, Tong Yin, MD, PhD, Yucai Xie, MD, PhD   +17 more
doaj   +1 more source

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.

PLoS ONE, 2015
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale   +15 more
doaj   +1 more source

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study

International Journal of Cardiology: Heart & Vasculature, 2015
Background: Dilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions.
Avinanda Banerjee, Pradip K. Ghoshal, Kaushik Sengupta   +2 more
doaj   +1 more source

Lamin A/C deficiency-mediated ROS elevation contributes to pathogenic phenotypes of dilated cardiomyopathy in iPSC model

Nature Communications
Mutations in the nuclear envelope (NE) protein lamin A/C (encoded by LMNA), cause a severe form of dilated cardiomyopathy (DCM) with early-onset life-threatening arrhythmias.
Hangyuan Qiu, Yaxun Sun, Xiaochen Wang, Tingyu Gong, Jun Su, Jiaxi Shen, Jingjun Zhou, Jiafeng Xia, Hao Wang, Xiangfu Meng, Guosheng Fu, Donghui Zhang, Chenyang Jiang, Ping Liang   +13 more
doaj   +1 more source

Association of obstetrics and foetal ultrasound parameters with maternal serum Lamin A: A teaching institution-based cross-sectional study

Journal of Family Medicine and Primary Care
Introduction: Ultrasound imaging is commonly used during pregnancy to detect potential foetal anomalies. Lamin A (LMNA), a nuclear envelope protein, has been identified as a potential biomarker for predicting adverse pregnancy outcomes.
Kumar Ranjit, Jiut Ram Keshari, Prabhakar Pankaj, Prakash Pritam, Rani Kirti, Prasad Dipali   +5 more
doaj   +1 more source

Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

Revista Portuguesa de Cardiologia, 2017
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated ...
Ana Rita G. Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J. Pinto, Dulce Brito   +5 more
doaj   +1 more source

Posttranslational Modifications of Lamin A/C and Cardiac Aging: A Short Review

Journal of the Practice of Cardiovascular Sciences
Cardiac aging is considered as natural and age-related changes in the heart, which can lead to a decline in heart function. Cardiac aging increases the risk of heart failure, atrial fibrillation, and other cardiovascular complications.
Vikas Tiwari, Samhita Chakraborty, Sanjay K. Banerjee   +2 more
doaj   +1 more source